The MalaCard for "hernia" has been retired.
Searching MalaCards for entries containing "hernia"

959 hits were found for 'hernia'

# ++ Fam MCID Name MIFTS Score
1
P CNG015 Congenital Diaphragmatic Hernia 52 6.539
2
HTS001 Hiatus Hernia 39 5.012
3
c DPH016 Diaphragmatic Hernia 3 27 4.801
4
DNN002 Donnai-Barrow Syndrome 33 3.755
5
MCR062 Microcephaly, Hiatal Hernia and Nephrotic Syndrome 18 3.375
6
FRY002 Fryns Syndrome 45 3.009
7
ACR038 Acromegaloid Features, Overgrowth, Cleft Palate and Hernia 6 2.893
8
c DND012 Dandy-Walker Malformation with Nasopharyngeal Teratoma and Diaphragmatic Hernia 2 2.893
9
DPH011 Diaphragmatic Hernia Upper Limb Defects 9 2.459
10
P SHR029 Short Syndrome 55 2.439
11
ABD010 Abdominal Wall Defect 33 2.425
12
c HRN009 Hernia, Congenital Diaphragmatic 1 7 2.425
13
c HRN010 Hernia, Congenital Diaphragmatic 2 7 2.381
14
SPG003 Spigelian Hernia-Cryptorchidism Syndrome 3 2.381
15
LMB010 Lambert Syndrome 35 2.358
16
ART051 Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 1 2.358
17
DPH010 Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis 1 2.358
18
HYD024 Hydrocephaly Corpus Callosum Agenesis Diaphragmatic Hernia 0 2.358
19
MCR090 Microspherophakia with Hernia 0 2.358
20
HRN002 Hernia of Ovary and Fallopian Tube 4 2.343
21
GRS006 Gershoni-Baruch Syndrome 3 2.343
22
DH1001 Dih1-Related Congenital Diaphragmatic Hernia 0 2.343
23
MRF012 Marfanoid Habitus - Inguinal Hernia - Advanced Bone Age 0 2.343
24
c PRS049 Persistent Mullerian Duct Syndrome 36 1.734
25
PGD001 Pagod Syndrome 17 1.676
26
GST056 Gastrocutaneous Syndrome 10 1.676
27
SHP002 Shprintzen-Goldberg Syndrome 27 1.657
28
APL011 Aplasia Cutis Myopia 11 1.657
29
DSP001 Displacement of Cardia Through Esophageal Hiatus 4 1.657
30
SLB001 Saal Bulas Syndrome 2 1.657
31
MGR005 Megarbane Syndrome 1 1.657
32
CMB016 Combined Oxidative Phosphorylation Deficiency 5 21 0.180
33
c XP2001 Xp22.3 Microdeletion Syndrome 17 0.180
34
c INT070 Intestinal Obstruction 46 0.170
35
LMB055 Limb Transversal Defect - Cardiac Anomaly 19 0.167
36
HYD005 Hydrocele 39 0.160
37
AZY001 Azygos Continuation of the Inferior Vena Cava 6 0.155
38
IDP042 Idiopathic Recurrent Stupor 15 0.153
39
P ESP024 Esophagitis 51 0.149
40
CMB019 Combined Oxidative Phosphorylation Deficiency 8 23 0.145
41
c CRN222 Corneal Endothelial Dystrophy 1, Autosomal Dominant 13 0.145
42
LTR008 Lateral Body Wall Defect 9 0.145
43
14Q004 14q22q23 Microdeletion Syndrome 25 0.140
44
3Q2005 3q26q27 Microdeletion Syndrome 14 0.140
45
END072 Endotheliitis 51 0.135
46
NSP010 Nasopharyngeal Teratoma 14 0.133
47
P HYP075 Hypertension 76 0.123
48
P PLM069 Pulmonary Venous Return Anomaly 15 0.120
49
CMB043 Combined Oxidative Phosphorylation Deficiency 9 15 0.116
50
RDC004 Reductional Transverse Limb Defects 9 0.116
51
c CRP010 Corpus Callosum Agenesis 45 0.113
52
GRB002 Gerbode Defect 18 0.113
53
PPT001 Peptic Esophagitis 32 0.111
54
c OST108 Osteogenesis Imperfecta Type Xiii 31 0.111
55
P OMP004 Omphalocele 53 0.108
56
GST034 Gastroesophageal Reflux Disease 65 0.105
57
CRY002 Cryptorchidism 59 0.103
58
BRN056 Bronchopulmonary Dysplasia 55 0.103
59
BRR013 Barrett Esophagus/esophageal Adenocarcinoma 46 0.103
60
EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 31 0.103
61
21Q001 21q22.11q22.12 Microdeletion Syndrome 13 0.103
62
CMB013 Combined Oxidative Phosphorylation Deficiency 2 21 0.100
63
HYP178 Hyperthermia Induced Defects 10 0.100
64
ESP020 Esophageal Atresia 54 0.097
65
DDN011 Duodenal Atresia 41 0.097
66
P OPT051 Opitz Gbbb Syndrome, Type I 25 0.097
67
APP008 Appendicitis 54 0.094
68
CRN185 Craniofacial Deafness Hand Syndrome 28 0.094
69
AXL004 Axial Mesodermal Dysplasia Spectrum 24 0.094
70
ANK002 Ankylosing Spondylitis 75 0.091
71
NSY001 N Syndrome 57 0.091
72
17Q004 17q12 Microdeletion Syndrome 32 0.091
73
c 2P1003 2p13.2 Microdeletion Syndrome 11 0.091
74
GLL008 Gilles De La Tourette Syndrome 60 0.088
75
ENT001 Enterocele 39 0.088
76
P HRT021 Heart Block, Progressive, Type Ia 35 0.088
77
c DST058 Distal Monosomy 12p 16 0.088
78
MNS013 Monosomy 13q34 14 0.088
79
BRN050 Branchial Arch Defects 13 0.088
80
AND002 Androgen Insensitivity Syndrome 75 0.085
81
IRN001 Iron Deficiency Anemia 58 0.085
82
GST009 Gastroschisis 58 0.085
83
CRD001 Cardiac Tamponade 51 0.085
84
IMP002 Imperforate Anus 47 0.085
85
GST064 Gastric Outlet Obstruction 35 0.085
86
17Q001 17q21.31 Microdeletion Syndrome 29 0.085
87
c CHR226 Chromosome 1q41-Q42 Deletion Syndrome 23 0.085
88
MCR071 Microdeletion 15q11.2 21 0.085
89
HYP179 Hypertrichosis Congenital Generalized X-Linked 18 0.085
90
ART016 Aortic Aneurysm 62 0.082
91
SCN006 Secondary Syphilis 53 0.082
92
THR013 Thoracic Outlet Syndrome 53 0.082
93
HMN016 Hemangioendothelioma 51 0.082
94
PNC045 Pancreatic Agenesis 49 0.082
95
DPH006 Diaphragmatic Eventration 30 0.082
96
c 2Q3005 2q31.1 Microdeletion Syndrome 22 0.082
97
10P002 10p11.21p12.31 Microdeletion Syndrome 14 0.082
98
ANK003 Ankle Defects Short Stature 9 0.082
99
P ABD003 Abdominal Aortic Aneurysm 65 0.078
100
P XRD018 Xeroderma Pigmentosum, Group a 60 0.078
101
c CHR345 Chronic Pain 53 0.078
102
PNM008 Pneumothorax 48 0.078
103
c SPN183 Spontaneous Pneumothorax 44 0.078
104
P SPL033 Split-Hand/foot Malformation 6 33 0.078
105
MCK002 Meckel's Diverticulum 32 0.078
106
P ALV007 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 30 0.078
107
EHL006 Ehlers–danlos Syndrome 27 0.078
108
17Q007 17q11 Microdeletion Syndrome 21 0.078
109
12P001 12p12.1 Microdeletion Syndrome 15 0.078
110
DPH021 Diaphragm Disease 14 0.078
111
NRL016 Neural Tube Defects 69 0.075
112
TKY001 Takayasu's Arteritis 65 0.075
113
PSD007 Pseudomyxoma Peritonei 58 0.075
114
JCB001 Jacobsen Syndrome 49 0.075
115
c TYP003 Type I Ehlers-Danlos Syndrome 45 0.075
116
BLD045 Bladder Diverticulum 29 0.075
117
c RBN009 Robinow Syndrome, Autosomal Recessive 29 0.075
118
HNM001 Hinman's Syndrome 28 0.075
119
SRF004 Surfactant Metabolism Dysfunction, Pulmonary, 1 24 0.075
120
P STR035 Streptococcal Group a Invasive Disease 15 0.075
121
GST023 Gastric Ulcer 67 0.071
122
PPT003 Peptic Ulcer 55 0.071
123
c TRT010 Teratoma 53 0.071
124
c EHL021 Ehlers-Danlos Syndrome Type Viib 50 0.071
125
P MBS002 Moebius Syndrome 45 0.071
126
MCR029 Micro Syndrome 31 0.071
127
P PLM064 Pulmonary Sequestration 25 0.071
128
c CHR266 Chromosome 8p23.1 Deletion 21 0.071
129
19Q001 19q13.11 Microdeletion Syndrome 21 0.071
130
CNG235 Congenital Microgastria 13 0.071
131
ATX002 Ataxia Telangiectasia 81 0.067
132
P OBS005 Obesity 79 0.067
133
P CNG026 Congenital Heart Defect 65 0.067
134
P DDN001 Duodenal Ulcer 63 0.067
135
P ADN016 Adenocarcinoma 60 0.067
136
OCC006 Occipital Horn Syndrome 57 0.067
137
P LPS002 Liposarcoma 54 0.067
138
ANN002 Anencephaly 53 0.067
139
WLF002 Wolf-Hirschhorn Syndrome 51 0.067
140
ALB002 Albinism 50 0.067
141
PLY012 Polyhydramnios 49 0.067
142
TRC040 Tracheoesophageal Fistula 44 0.067
143
EHL012 Ehlers-Danlos Syndrome Dermatosparaxis Type 29 0.067
144
ACR045 Acro-Pectoro-Renal Field Defect 13 0.067
145
TRG010 Trigonomacrocephaly Tibial Defect Polydactyly 9 0.067
146
c MCR219 Microphthalmia, Isolated 8 8 0.067
147
P MLG075 Malignant Mesothelioma 58 0.062
148
STS002 Situs Inversus 56 0.062
149
FCL009 Focal Dermal Hypoplasia 56 0.062
150
MLN007 Male Infertility 56 0.062
151
P INF032 Infertility 55 0.062
152
LPM004 Lipoma 51 0.062
153
EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 44 0.062
154
1P3001 1p36 Deletion Syndrome 44 0.062
155
SCR024 Sacrococcygeal Teratoma 42 0.062
156
P PCH002 Pachygyria 37 0.062
157
GST007 Gastric Dilatation 33 0.062
158
c SPL037 Split Hand Foot Malformation 33 0.062
159
WND002 Wandering Spleen 26 0.062
160
MLR006 Male Reproductive Organ Cancer 21 0.062
161
TRS012 Trisomy 22 16 0.062
162
CHY005 Chylothorax, Congenital 16 0.062
163
TBR010 Tuberculosis 82 0.058
164
RLP001 Relapsing Polychondritis 66 0.058
165
P BCK002 Beckwith-Wiedemann Syndrome 62 0.058
166
MRB003 Morbid Obesity 60 0.058
167
P RSP003 Respiratory Failure 60 0.058
168
c EHL001 Ehlers-Danlos Syndrome 55 0.058
169
EHL033 Ehlers-Danlos Syndrome, Classic Type 53 0.058
170
CHL004 Cholelithiasis 50 0.058
171
ENT015 Enthesitis-Related Arthritis 50 0.058
172
PSD009 Pseudohermaphroditism 49 0.058
173
P HTR003 Heterotaxy 46 0.058
174
CRN005 Craniofrontonasal Syndrome 46 0.058
175
PYL006 Pyloric Stenosis 44 0.058
176
FSC004 Fasciitis 44 0.058
177
RPT002 Ruptured Abdominal Aortic Aneurysm 40 0.058
178
DVR002 Diverticulitis 39 0.058
179
c 3Q2003 3q29 Microdeletion Syndrome 37 0.058
180
DBL002 Double Outlet Right Ventricle 36 0.058
181
ESP029 Esophageal Atresia/tracheoesophageal Fistula 35 0.058
182
46X018 46xy Sex Reversal 6 32 0.058
183
CYS024 Cystinosis, Ocular Nonnephropathic 32 0.058
184
INT071 Intestinal Perforation 32 0.058
185
HGH023 High Bone Mass Osteogenesis Imperfecta 27 0.058
186
ZP7001 Zap70-Related Severe Combined Immunodeficiency 24 0.058
187
DFN039 Deafness-Infertility Syndrome 24 0.058
188
RPT003 Ruptured Aortic Aneurysm 22 0.058
189
MCH011 Meacham Syndrome 21 0.058
190
CRD032 Cardioskeletal Syndrome Kuwaiti Type 20 0.058
191
CMB018 Combined Oxidative Phosphorylation Deficiency 7 20 0.058
192
c EHL047 Ehlers-Danlos Syndrome, Musculocontractural Type 1 18 0.058
193
ULN013 Ulnar/fibula Ray Defect - Brachydactyly 17 0.058
194
12Q001 12q15q21.1 Microdeletion Syndrome 14 0.058
195
TRM014 Terminal Transverse Defects of Arm 14 0.058
196
c CNG383 Congenital Heart Defects, Nonsyndromic, 2 13 0.058
197
HYP571 Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome 11 0.058
198
CYS001 Cystic Fibrosis 91 0.053
199
MRF001 Marfan Syndrome 78 0.053
200
LVR012 Liver Cirrhosis 69 0.053
201
CLN016 Colon Cancer 66 0.053
202
DFC004 Deficiency Anemia 65 0.053
203
P SHR002 Short Stature 64 0.053
204
c LCL006 Localized Scleroderma 64 0.053
205
SPN038 Spina Bifida 63 0.053
206
P HYD006 Hydrocephalus 60 0.053
207
c NPH012 Nephrotic Syndrome 57 0.053
208
ACH005 Achalasia 57 0.053
209
CHR103 Charge Syndrome 53 0.053
210
CHL067 Cholecystitis 53 0.053
211
c MCR013 Microphthalmia 53 0.053
212
WLL003 Williams Syndrome 50 0.053
213
OBS001 Obstructive Jaundice 50 0.053
214
c EPS003 Episodic Ataxia 50 0.053
215
c OST025 Osteogenesis Imperfecta Type Iii 45 0.053
216
NCR007 Necrotizing Fasciitis 40 0.053
217
CMP034 Complete Androgen Insensitivity Syndrome 37 0.053
218
SPL006 Splenic Infarction 36 0.053
219
c ALV006 Alveolar Capillary Dysplasia 36 0.053
220
ABD004 Abdominal Tuberculosis 35 0.053
221
CRK001 Cork-Handlers' Disease 28 0.053
222
12Q002 12q14 Microdeletion Syndrome 28 0.053
223
P ACH009 Achondrogenesis Type Ib 27 0.053
224
TFT003 Tufting Enteropathy 26 0.053
225
2Q3003 2q32q33 Microdeletion Syndrome 25 0.053
226
c 2Q2001 2q23.1 Microdeletion Syndrome 25 0.053
227
INT011 Interstitial Emphysema 24 0.053
228
EHL039 Ehlers-Danlos Syndrome, Periodontitis Type 23 0.053
229
DDN009 Duodenal Obstruction 22 0.053
230
15Q002 15q24 Microdeletion Syndrome 22 0.053
231
CLF029 Cleft Palate and Mental Retardation 21 0.053
232
RTR012 Retroperitoneal Liposarcoma 21 0.053
233
c EHL016 Ehlers-Danlos Syndrome Type 5 11 0.053
234
CNG062 Congenital Bronchobiliary Fistula 10 0.053
235
MNK001 Menkes Disease 71 0.047
236
HPT023 Hepatocellular Carcinoma 69 0.047
237
P OST005 Osteogenesis Imperfecta 69 0.047
238
RNL002 Renal Agenesis 68 0.047
239
PRT036 Peritonitis 67 0.047
240
P ANG001 Angelman Syndrome 67 0.047
241
P PRT013 Portal Hypertension 65 0.047
242
ART019 Aortic Valve Stenosis 64 0.047
243
WST001 West Syndrome 64 0.047
244
OCL005 Oculocerebrorenal Syndrome 61 0.047
245
DNY001 Denys-Drash Syndrome 58 0.047
246
MYC002 Mycobacterium Avium Complex Disease 56 0.047
247
PTN001 Patent Foramen Ovale 56 0.047
248
MCN001 Mucinous Adenocarcinoma 54 0.047
249
ART001 Arterial Tortuosity Syndrome 52 0.047
250
P MLG002 Malignant Peritoneal Mesothelioma 51 0.047
251
WGR001 Wagr Syndrome 50 0.047
252
SYN036 Syncope 49 0.047
253
HYP009 Hypertrophic Pyloric Stenosis 47 0.047
254
PRC012 Pericardial Effusion 47 0.047
255
CHY002 Chylomicron Retention Disease 46 0.047
256
CRB009 Cerebritis 46 0.047
257
c ACR001 Aicardi-Goutieres Syndrome 46 0.047
258
P CMP008 Compartment Syndrome 45 0.047
259
PRX034 Peroxisome Disorders 43 0.047
260
HRM002 Hermaphroditism 43 0.047
261
DYS073 Dysphagia 42 0.047
262
P ADR027 Adrenocortical Insufficiency 42 0.047
263
CHY006 Chylous Ascites 40 0.047
264
ACT055 Actinomycosis 40 0.047
265
SWY002 Swyer Syndrome 39 0.047
266
HYP539 Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive 36 0.047
267
MGS001 Megaesophagus 36 0.047
268
GLD002 Goldberg-Shprintzen Megacolon Syndrome 35 0.047
269
EFM001 Efemp2-Related Cutis Laxa 35 0.047
270
RNL025 Renal Hypoplasia 32 0.047
271
P SMP004 Simpson-Golabi-Behmel Syndrome Type 1 32 0.047
272
SCM001 Scimitar Syndrome 32 0.047
273
DFC001 Defective Apolipoprotein B-100 30 0.047
274
c MCP012 Mucopolysaccharidosis Ih 28 0.047
275
c HYP543 Hypoplastic Left Heart Syndrome 1 26 0.047
276
CL1004 Col1a1/2-Related Osteogenesis Imperfecta 25 0.047
277
c OST040 Osteogenesis Imperfecta Type 6 24 0.047
278
c HRM004 Hermansky Pudlak Syndrome 2 24 0.047
279
TRC038 Tracheobronchomegaly 23 0.047
280
XLN018 X-Linked Creatine Deficiency 22 0.047
281
CMB025 Combined Oxidative Phosphorylation Deficiency 10 22 0.047
282
URC005 Urachal Cyst 21 0.047
283
MCR039 Macrophagic Myofasciitis 21 0.047
284
CRT057 Critical Congenital Heart Disease 20 0.047
285
ISL074 Isolated Pierre Robin Sequence 20 0.047
286
P NML009 Nemaline Myopathy 2, Autosomal Recessive 20 0.047
287
PLM013 Pulmonary Immaturity 18 0.047
288
MLL004 Mallory-Weiss Syndrome 18 0.047
289
UPP006 Upper Limb Defect - Eye and Ear Abnormalities 17 0.047
290
c OST109 Osteogenesis Imperfecta, Type Xiv 16 0.047
291
c 9P1001 9p13 Microdeletion Syndrome 13 0.047
292
c 5Q3002 5q31.3 Microdeletion Syndrome 13 0.047
293
c EHL019 Ehlers-Danlos Syndrome Type Via 12 0.047
294
SND005 Sandifer Syndrome 12 0.047
295
WLF007 Wolf–hirschhorn Syndrome 12 0.047
296
PRM033 Paraomphalocele 11 0.047
297
XLN086 X-Linked Ehlers-Danlos Syndrome 10 0.047
298
P PRM021 Primary Pulmonary Hypertension 74 0.041
299
BRN024 Bronchitis 71 0.041
300
GLN003 Glanzmann's Thrombasthenia 68 0.041
301
P ADL010 Adult Respiratory Distress Syndrome 66 0.041
302
BRR003 Barrett's Esophagus 62 0.041
303
LMY002 Leiomyoma 61 0.041
304
HYP266 Hypoxia 60 0.041
305
P CLF002 Cleft Palate 60 0.041
306
P VCT001 Vacterl Association 59 0.041
307
SMT015 Smith Magenis Syndrome 58 0.041
308
c AXN002 Axenfeld-Rieger Syndrome 57 0.041
309
c MCP009 Mucopolysaccharidosis Ii 54 0.041
310
c MCR010 Microcephaly 54 0.041
311
ANR004 Anuria 53 0.041
312
ACR008 Acrocallosal Syndrome 53 0.041
313
EDW001 Edwards Syndrome 52 0.041
314
c MYP004 Myopathy 52 0.041
315
MTT005 Matthew-Wood Syndrome 52 0.041
316
LFT009 Left Ventricular Outflow Tract Obstruction 52 0.041
317
c MNT147 Mental Retardation 51 0.041
318
ANK001 Ankylosis 51 0.041
319
LYM021 Lymphadenitis 50 0.041
320
VRC001 Varicocele 49 0.041
321
c HYD002 Hydronephrosis 48 0.041
322
UTR039 Uterine Fibroid 48 0.041
323
CFF001 Coffin-Siris Syndrome 47 0.041
324
PST087 Posterior Urethral Valve 47 0.041
325
LMB052 Lumbar Disc Herniation 46 0.041
326
WLL001 Williams-Beuren Syndrome 46 0.041
327
c SMP003 Simpson-Golabi-Behmel Syndrome 45 0.041
328
DYS018 Dysostosis 45 0.041
329
P OVR046 Ovarian Cyst 44 0.041
330
RCR001 Recurrent Corneal Erosion 43 0.041
331
PST041 Posterior Urethral Valves 42 0.041
332
INT052 Intestinal Volvulus 40 0.041
333
c MCR103 Microtia 40 0.041
334
ARS002 Arsacs 40 0.041
335
c TYP002 Type Vi Ehlers-Danlos Syndrome 40 0.041
336
P MNN007 Meningocele 38 0.041
337
DDN004 Duodenogastric Reflux 37 0.041
338
P CRN139 Cornelia De Lange Syndrome 1 34 0.041
339
P 2Q3002 2q37 Microdeletion Syndrome 34 0.041
340
P SPN121 Spondylocostal Dysostosis 1 33 0.041
341
HRD028 Hereditary Folate Malabsorption 32 0.041
342
P EHL009 Ehlers-Danlos Syndrome Type Iv 30 0.041
343
15Q001 15q13.3 Microdeletion 29 0.041
344
SCH035 Schwartz Jampel Syndrome Type 1 29 0.041
345
c ERL004 Early Yaws 29 0.041
346
TRL003 Toriello Carey Syndrome 26 0.041
347
PLM071 Pulmonary Surfactant Metabolism Dysfunction 25 0.041
348
c CTS019 Cutis Laxa, Ad 25 0.041
349
PNM003 Pneumatosis Cystoides Intestinalis 24 0.041
350
16Q001 16q24.3 Microdeletion Syndrome 23 0.041
351
LMB013 Limb Reduction Defect 21 0.041
352
ABD002 Abducens Nerve Disease 20 0.041
353
MRG001 Morgagni Cataract 19 0.041
354
HRD009 Hereditary Wilms' Tumor 19 0.041
355
c CHR198 Chromosome 15q Deletion 17 0.041
356
c TTL001 Total Internal Ophthalmoplegia 17 0.041
357
P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 16 0.041
358
c ANT010 Anterior Compartment Syndrome 15 0.041
359
PST042 Posterior Valve Urethra 14 0.041
360
c DFN021 Deafness with Labyrinthine Aplasia Microtia and Microdontia 13 0.041
361
c CNG257 Congenital Pulmonary Sequestration 12 0.041
362
CRH001 Crohn's Disease 78 0.033
363
P GST019 Gastrointestinal Stromal Tumor 75 0.033
364
P SMT004 Smith-Lemli-Opitz Syndrome 72 0.033
365
CST001 Costello Syndrome 71 0.033
366
ACN002 Acanthosis Nigricans 70 0.033
367
c DBT009 Diabetes Mellitus 68 0.033
368
P PNM007 Pneumonia 67 0.033
369
c HPT021 Hepatitis 65 0.033
370
ABT001 Abetalipoproteinemia 64 0.033
371
VNH001 Von Hippel-Lindau Disease 63 0.033
372
P SYS005 Systemic Scleroderma 63 0.033
373
AMN001 Amenorrhea 63 0.033
374
c CRN037 Craniosynostosis 62 0.033
375
P PLY014 Polycystic Kidney Disease 62 0.033
376
PSY004 Psychotic Disorder 62 0.033
377
HMN010 Hemangioma 62 0.033
378
PTN002 Patent Ductus Arteriosus 61 0.033
379
c THY032 Thyroiditis 61 0.033
380
P BLR001 Biliary Atresia 60 0.033
381
P DGR001 Digeorge Syndrome 60 0.033
382
TTN003 Tetanus 60 0.033
383
c MCP001 Mucopolysaccharidosis Iii 59 0.033
384
ANR002 Aniridia 59 0.033
385
P PLM036 Pulmonary Fibrosis 59 0.033
386
P CTS001 Cutis Laxa 59 0.033
387
c PNC044 Pancreatitis 58 0.033
388
ACR015 Acrocephalosyndactylia 57 0.033
389
ISC004 Ischemia 57 0.033
390
INT051 Intussusception 57 0.033
391
P HYP040 Hypospadias 56 0.033
392
THR009 Thrombocytopenia-Absent Radius Syndrome 55 0.033
393
KDS001 Kid Syndrome 55 0.033
394
P HYP055 Hypoplastic Left Heart Syndrome 55 0.033
395
SNS001 Sensorineural Hearing Loss 55 0.033
396
CDL003 Caudal Regression Syndrome 55 0.033
397
ARS001 Aarskog-Scott Syndrome 55 0.033
398
P LMY004 Leiomyosarcoma 53 0.033
399
SPN020 Spondylosis 53 0.033
400
c KDN018 Kidney Disease 52 0.033
401
P CLL015 Collagen Disease 52 0.033
402
c DST002 Distal Arthrogryposis 52 0.033
403
HPY002 H. Pylori Infection 52 0.033
404
DND001 Dandy-Walker Syndrome 52 0.033
405
NRF007 Neurofibroma 51 0.033
406
P WVR001 Weaver Syndrome 51 0.033
407
c NNT009 Neonatal Diabetes Mellitus 51 0.033
408
SNG010 Single Median Maxillary Central Incisor 50 0.033
409
DNH001 Donohue Syndrome 50 0.033
410
c DNT011 Dentinogenesis Imperfecta 50 0.033
411
P PTT014 Pitt-Hopkins Syndrome 49 0.033
412
c SPN016 Spondylocostal Dysostosis 49 0.033
413
MDS022 Mediastinitis 49 0.033
414
PTR006 Peters Plus Syndrome 48 0.033
415
P NML001 Nemaline Myopathy 48 0.033
416
ORC001 Orchitis 48 0.033
417
P THR090 Thrombocythemia 1 48 0.033
418
P KLP003 Klippel-Feil Syndrome 48 0.033
419
MTB004 Metabolic Acidosis 48 0.033
420
URC002 Urea Cycle Disorder 48 0.033
421
FBR019 Fibromatosis 47 0.033
422
SLY001 Sly Syndrome 47 0.033
423
ILS001 Ileus 47 0.033
424
GRG001 Greig Cephalopolysyndactyly Syndrome 46 0.033
425
ADN014 Adenomatoid Tumor 46 0.033
426
RDC002 Radiculopathy 46 0.033
427
PRT019 Protein-Losing Enteropathy 46 0.033
428
c RSM001 Rasmussen Encephalitis 46 0.033
429
P ATS008 Autosomal Dominant Disease 45 0.033
430
c PLY026 Polycystic Kidney Disease, Autosomal Dominant 45 0.033
431
BLD044 Bladder Disease 45 0.033
432
CYS014 Cystadenocarcinoma 45 0.033
433
OLG003 Oligohydramnios 45 0.033
434
c HYP273 Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia 45 0.033
435
c CRN015 Cornelia De Lange Syndrome 45 0.033
436
P AZS001 Azoospermia 44 0.033
437
ASP002 Aspartylglucosaminuria 43 0.033
438
PYD002 Pyoderma 43 0.033
439
MLK003 Melkersson-Rosenthal Syndrome 43 0.033
440
CHR101 Char Syndrome 42 0.033
441
SMN007 Seminoma 42 0.033
442
P ATR001 Atrioventricular Septal Defect 42 0.033
443
KRT002 Keratomalacia 42 0.033
444
ATX019 Ataxia with Vitamin E Deficiency 40 0.033
445
SCH016 Schimke Immunoosseous Dysplasia 40 0.033
446
P PRR010 Pierre Robin Sequence 39 0.033
447
HRS011 Horseshoe Kidney 39 0.033
448
AND003 Andersen-Tawil Syndrome 39 0.033
449
BRS090 Breast Reconstruction 39 0.033
450
MLT055 Multiple Pterygium Syndrome Lethal Type 39 0.033
451
EXN003 Exencephaly 38 0.033
452
PLM074 Pulmonary Function 38 0.033
453
P KLF001 Kleefstra Syndrome 37 0.033
454
PLN006 Poland Syndrome 36 0.033
455
TTR016 Tetra-Amelia Syndrome 36 0.033
456
PLR005 Pleuropneumonia 36 0.033
457
TRN044 Transposition of the Great Arteries 36 0.033
458
P CNG007 Congenital Adrenal Insufficiency 36 0.033
459
P ATR010 Atrial Heart Septal Defect 35 0.033
460
IPX001 Ipex Syndrome 35 0.033
461
P SPR035 Superior Vena Cava Syndrome 34 0.033
462
MYC015 Mycobacterium Fortuitum 34 0.033
463
SRF006 Surfactant Dysfunction 34 0.033
464
P RBN011 Robinow Syndrome, Autosomal Dominant 34 0.033
465
EHL010 Ehlers-Danlos Syndrome Arthrochalasia Type 33 0.033
466
FML087 Familial Renal Cell Carcinoma 33 0.033
467
P CHR269 Chromosome 9p Deletion 32 0.033
468
ADS002 Adie Syndrome 32 0.033
469
IMR001 Imerslund-Grasbeck Syndrome 31 0.033
470
P SLD005 Sialidosis Type I 31 0.033
471
MLT054 Multiple Pterygium Syndrome Escobar Type 30 0.033
472
c ACH008 Achondrogenesis Type Ia 29 0.033
473
APP009 Appendix Adenocarcinoma 28 0.033
474
HMG020 Hmg Coa Lyase Deficiency 28 0.033
475
CLK001 C-Like Syndrome 27 0.033
476
c OST036 Osteogenesis Imperfecta Type 2a 27 0.033
477
P DST041 Distal Monosomy 3p 27 0.033
478
NNT039 Neonatal Marfan Syndrome 27 0.033
479
SGM004 Sigmoid Colon Cancer 26 0.033
480
LTR009 Lateral Meningocele Syndrome 26 0.033
481
INN003 Iniencephaly 25 0.033
482
NNS006 Non-Suppurative Otitis Media 24 0.033
483
P CTS009 Cutis Laxa, Autosomal Recessive Type 2a 24 0.033
484
6Q1001 6q16 Deletion Syndrome 24 0.033
485
P DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 23 0.033
486
EXS007 Exstrophy of the Bladder 23 0.033
487
c OST043 Osteogenesis Imperfecta Type 9 22 0.033
488
MNS009 Monosomy 13q14 22 0.033
489
JNT001 Joint Laxity, Familial 22 0.033
490
c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 21 0.033
491
NNT033 Neonatal Hypoxic and Ischemic Brain Injury 21 0.033
492
P DND007 Dandy-Walker Like Malformation with Atrioventricular Septal Defect 21 0.033
493
48X003 48,xxyy Syndrome 21 0.033
494
P HYP078 Hypertrophy of Breast 20 0.033
495
HRT016 Heart Defect, Tongue Hamartoma and Polysyndactyly 20 0.033
496
ANR019 Anorectal Atresia 19 0.033
497
MLT104 Multiple Benign Circumferential Skin Creases on Limbs 19 0.033
498
P 19P001 19p13.12 Microdeletion Syndrome 19 0.033
499
AND005 Androgen Insensitivity Syndrome, Mild 19 0.033
500
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 19 0.033
501
c KRN003 Kernicterus Due to Isoimmunization 18 0.033
502
HSB001 His Bundle Tachycardia 18 0.033
503
SCR020 Sacral Defect with Anterior Meningocele 18 0.033
504
CHL076 Chilaiditi Syndrome 17 0.033
505
DYS052 Dyssegmental Dysplasia Silverman-Handmaker Type 17 0.033
506
c BNG076 Benign Exophthalmos Syndrome 17 0.033
507
SCR025 Scarf Syndrome 15 0.033
508
LWR007 Lowry Maclean Syndrome 15 0.033
509
c PRS067 Persistent Mullerian Duct Syndrome, Type I 14 0.033
510
21Q002 21q22.13q22.2 Microdeletion Syndrome 14 0.033
511
c CHR229 Chromosome 20p Duplication 14 0.033
512
c KLF003 Kleefstra Syndrome Due to 9q34 Microdeletion 13 0.033
513
c HTR007 Heterotopia, Periventricular, Ed Variant 13 0.033
514
HYP527 Hypomagnesemia 5, Renal, with Ocular Involvement 12 0.033
515
PRX069 Proximal 16p11.2 Microdeletion Syndrome 12 0.033
516
CPR003 Cooper-Jabs Syndrome 12 0.033
517
NNS029 Non-Secreting Paraganglioma 11 0.033
518
RDC003 Red Cell Phospholipid Defect with Hemolysis 11 0.033
519
SPL038 Splenogonadal Fusion - Limb Defects - Micrognathia 11 0.033
520
CRN223 Craniofaciofrontodigital Syndrome 11 0.033
521
DFN031 Deafness, Epiphyseal Dysplasia, Short Stature 11 0.033
522
48X002 48,xxxy Syndrome 10 0.033
523
DRM037 Dermato-Cardio-Skeletal Syndrome, Borrone Type 9 0.033
524
ANP015 Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies 9 0.033
525
OVR074 Overgrowth Radial Ray Defect Arthrogryposis 9 0.033
526
CTR089 Cataract - Aberrant Oral Frenula - Growth Delay 9 0.033
527
GSB001 Gas Bloat Syndrome 5 0.033
528
P ALZ001 Alzheimer's Disease 93 0.024
529
P AMY001 Amyotrophic Lateral Sclerosis 87 0.024
530
P NRF002 Neurofibromatosis 86 0.024
531
P CSH001 Cushing's Syndrome 78 0.024
532
FBR012 Fabry Disease 74 0.024
533
THY028 Thyroid Cancer 73 0.024
534
ULC004 Ulcerative Colitis 71 0.024
535
ACT074 Acute Lymphocytic Leukemia 69 0.024
536
P CNG006 Congenital Hypothyroidism 69 0.024
537
ESP021 Esophageal Cancer 68 0.024
538
INC002 Inclusion Body Myositis 66 0.024
539
KLN001 Klinefelter's Syndrome 66 0.024
540
P HPT001 Hepatitis C 66 0.024
541
c XRD001 Xeroderma Pigmentosum 65 0.024
542
PLL001 Pallister-Hall Syndrome 64 0.024
543
STT001 Status Epilepticus 64 0.024
544
c PRM002 Primary Hyperoxaluria 63 0.024
545
ART021 Arteriosclerosis 63 0.024
546
IDP003 Idiopathic Pulmonary Fibrosis 62 0.024
547
MYS005 Myositis 61 0.024
548
PLY041 Polymyositis 61 0.024
549
P END044 Endometriosis 61 0.024
550
P NRB001 Neuroblastoma 60 0.024
551
MXD005 Mixed Connective Tissue Disease 60 0.024
552
LKC001 Leukocyte Adhesion Deficiency 60 0.024
553
BRN029 Brain Disease 60 0.024
554
PLM033 Pulmonary Embolism 60 0.024
555
TYP007 Typhoid Fever 60 0.024
556
P GST044 Gastritis 59 0.024
557
P DWR001 Dwarfism 59 0.024
558
DSS009 Disseminated Intravascular Coagulation 59 0.024
559
SQM006 Squamous Cell Carcinoma 58 0.024
560
CLR003 Clear Cell Adenocarcinoma 58 0.024
561
DWN001 Down Syndrome 58 0.024
562
CRB037 Cerebral Palsy 58 0.024
563
LRY016 Laryngeal Carcinoma 58 0.024
564
P CNV004 Canavan Disease 58 0.024
565
ANR008 Aneurysm Disease 57 0.024
566
GLD001 Goldenhar Syndrome 57 0.024
567
FCL008 Focal Glomerulosclerosis 57 0.024
568
P FRG001 Fragile X Syndrome 57 0.024
569
HMH002 Hemihypertrophy 57 0.024
570
c MCP005 Mucopolysaccharidosis Vi 57 0.024
571
P DBT005 Diabetes Insipidus 56 0.024
572
CMP002 Campylobacteriosis 56 0.024
573
MYX005 Myxoid Liposarcoma 56 0.024
574
ART031 Aortic Coarctation 56 0.024
575
c EMR001 Emery-Dreifuss Muscular Dystrophy 56 0.024
576
SLT008 Solitary Fibrous Tumor 55 0.024
577
TTR001 Tetralogy of Fallot 55 0.024
578
CHL068 Cholestasis 55 0.024
579
NRN001 Neuroendocrine Carcinoma 55 0.024
580
P PLY006 Polydactyly 55 0.024
581
c OST026 Osteogenesis Imperfecta Type I 55 0.024
582
MCK007 Muckle-Wells Syndrome 55 0.024
583
P PLM006 Pulmonary Alveolar Proteinosis 55 0.024
584
LDD001 Ladd Syndrome 54 0.024
585
LRN003 Learning Disability 54 0.024
586
DDN006 Duodenitis 54 0.024
587
P MTR005 Mitral Valve Prolapse 54 0.024
588
c THR003 Thoracic Aortic Aneurysm 54 0.024
589
c BLN003 Blindness 54 0.024
590
NRG002 Neurogenic Bladder 54 0.024
591
BBS001 Babesiosis 54 0.024
592
PLM034 Pulmonary Emphysema 53 0.024
593
SPN027 Spinal Stenosis 53 0.024
594
RTN017 Retinal Detachment 53 0.024
595
P LRY019 Laryngitis 53 0.024
596
c EPD016 Epidermolysis Bullosa 53 0.024
597
PYD001 Pyoderma Gangrenosum 53 0.024
598
P MYT006 Myotonic Dystrophy Type 1 53 0.024
599
SHR001 Short Bowel Syndrome 53 0.024
600
OST017 Osteomyelitis 53 0.024
601
PLY023 Polycystic Liver Disease 53 0.024
602
P EPL002 Epilepsy Syndrome 52 0.024
603
P SYR001 Syringomyelia 52 0.024
604
c CNT035 Central Nervous System Disease 52 0.024
605
HYP063 Hypersplenism 52 0.024
606
LMT001 Limited Scleroderma 52 0.024
607
P GLL020 Gallbladder Disease 52 0.024
608
GST027 Gastric Lymphoma 51 0.024
609
P FTL006 Fetal Alcohol Spectrum Disorder 51 0.024
610
P PRT039 Proteinuria 51 0.024
611
FNC044 Fanconi Anemia, Complementation Group C 51 0.024
612
HMS001 Hemosiderosis 51 0.024
613
P HYP097 Hyperekplexia 51 0.024
614
ART017 Aortic Disease 51 0.024
615
CLN020 Colonic Neoplasm 51 0.024
616
c LSS002 Lissencephaly 51 0.024
617
P INT068 Intestinal Disease 51 0.024
618
P NRV007 Nervous System Disease 51 0.024
619
CNN005 Connective Tissue Disease 51 0.024
620
HJD001 Hajdu-Cheney Syndrome 50 0.024
621
PRS047 Prostatitis 50 0.024
622
LPC002 Lip Cancer 50 0.024
623
LRG001 Large Cell Carcinoma 50 0.024
624
CYS009 Cystadenoma 50 0.024
625
c WLM002 Wilms Tumor 50 0.024
626
c SCK002 Sick Sinus Syndrome 50 0.024
627
HYP005 Hypokalemia 50 0.024
628
ADL002 Adult Syndrome 50 0.024
629
CNS004 Constipation 50 0.024
630
P MLS001 Melas Syndrome 50 0.024
631
PRM027 Primitive Neuroectodermal Tumor 50 0.024
632
P PRM100 Primary Spontaneous Pneumothorax 49 0.024
633
NRL005 Neurilemmoma 49 0.024
634
CYS002 Cystic Lymphangioma 49 0.024
635
LYM022 Lymphangioma 49 0.024
636
INT067 Interstitial Nephritis 49 0.024
637
c MYP011 Myopathy Congenital 48 0.024
638
URT010 Ureteral Obstruction 48 0.024
639
NTR021 Nutrition Disease 48 0.024
640
PRM003 Premature Ejaculation 48 0.024
641
P MCL015 Mucolipidosis Ii 48 0.024
642
RHB003 Rhabdomyosarcoma 48 0.024
643
ANG054 Angina Pectoris 48 0.024
644
PRV003 Perivascular Epithelioid Cell Tumor 48 0.024
645
HMP005 Hemiplegia 47 0.024
646
LRY018 Laryngeal Squamous Cell Carcinoma 47 0.024
647
MCN007 Meconium Aspiration Syndrome 47 0.024
648
ACR012 Aicardi Syndrome 47 0.024
649
RNL078 Renal Dysplasia 47 0.024
650
YLL001 Yellow Nail Syndrome 47 0.024
651
NRN002 Neuronitis 47 0.024
652
DFF003 Diffuse Scleroderma 47 0.024
653
P RBN002 Robinow Syndrome 47 0.024
654
SPR016 Spermatic Cord Torsion 47 0.024
655
c ENC008 Encephalocele 47 0.024
656
CHN015 Chondrodysplasia 46 0.024
657
GST045 Gastroenteritis 46 0.024
658
P FRS003 Fraser Syndrome 46 0.024
659
P STS001 Sotos Syndrome 46 0.024
660
NRT004 Neuritis 46 0.024
661
MYC005 Myocardial Stunning 46 0.024
662
MYC012 Mycetoma 46 0.024
663
c DXT001 Dextrocardia 45 0.024
664
ULN003 Ulnar-Mammary Syndrome 45 0.024
665
NPH017 Nephrosis 45 0.024
666
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 45 0.024
667
PTS001 Patau Syndrome 45 0.024
668
c MCP004 Mucopolysaccharidosis Iv 45 0.024
669
c BNG032 Benign Mesothelioma 45 0.024
670
P OCL013 Oculodentodigital Dysplasia 44 0.024
671
PNT028 Pantothenate Kinase-Associated Neurodegeneration 44 0.024
672
MCN008 Mucinous Cystadenocarcinoma 44 0.024
673
PRN038 Prune Belly Syndrome 44 0.024
674
IRN002 Iron Metabolism Disease 44 0.024
675
BLC003 Bloch-Sulzberger Syndrome 44 0.024
676
HYP265 Hypotonia 43 0.024
677
c SCK004 Seckel Syndrome 43 0.024
678
JBS001 Job's Syndrome 43 0.024
679
FRM007 Freeman Sheldon Syndrome 43 0.024
680
RLY001 Riley-Day Syndrome 43 0.024
681
ANT009 Antithrombin Iii Deficiency 43 0.024
682
CTY001 Cat Eye Syndrome 43 0.024
683
SPS057 Spasticity 42 0.024
684
ALP014 Alpha-Thalassemia/mental Retardation Syndrome 42 0.024
685
CCH002 Coach Syndrome 42 0.024
686
OST044 Osteoglophonic Dysplasia 42 0.024
687
c INT060 Intestinal Atresia 42 0.024
688
ESN005 Eosinophilic Gastroenteritis 42 0.024
689
RVL002 Ruvalcaba Syndrome 42 0.024
690
LYM011 Lymphogranuloma Venereum 41 0.024
691
P CYS017 Cystic Teratoma 41 0.024
692
P STC005 Stickler Syndrome Type 1 41 0.024
693
c BLP004 Blepharophimosis 41 0.024
694
CLN015 Colon Adenocarcinoma 41 0.024
695
MXD032 Mixed Germ Cell Tumor 40 0.024
696
c TRC005 Tracheal Stenosis 40 0.024
697
CRN025 Corneal Dystrophy 40 0.024
698
MLG098 Malignant Mixed Mullerian Tumor 40 0.024
699
RCT011 Rectal Prolapse 40 0.024
700
FTL007 Fetal Hydantoin Syndrome 40 0.024
701
MCP016 Mecp2 Duplication Syndrome 39 0.024
702
CRN113 Craniosynostosis, Syndromic 39 0.024
703
HYP030 Hypoactive Sexual Desire Disorder 39 0.024
704
P CNT092 Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease 39 0.024
705
GNT031 Genitopatellar Syndrome 39 0.024
706
SKL007 Skeletal Muscle Regeneration 39 0.024
707
CNG219 Congenital Aural Atresia 39 0.024
708
ANP022 Anophthalmia/microphthalmia 39 0.024
709
THY043 Thymic Hyperplasia 38 0.024
710
P PLM030 Pleomorphic Rhabdomyosarcoma 38 0.024
711
c OST038 Osteogenesis Imperfecta Type 4 38 0.024
712
NSP002 Nasopharyngitis 38 0.024
713
UNL007 Unilateral Renal Agenesis 38 0.024
714
P EPS020 Episodic Ataxia Type 1 38 0.024
715
PLR007 Pleural Empyema 37 0.024
716
MSS002 Mass Syndrome 37 0.024
717
c OST080 Osteogenesis Imperfecta, Type Ii 37 0.024
718
IVM001 Ivemark Syndrome 37 0.024
719
ACL001 Acalculous Cholecystitis 37 0.024
720
PRL008 Paralytic Ileus 37 0.024
721
HYP542 Hypersensitivity Syndrome, Carbamazepine-Induced 37 0.024
722
BLR002 Bile Reflux 37 0.024
723
GST020 Gastric Antral Vascular Ectasia 36 0.024
724
CRN088 Craniorachischisis 36 0.024
725
RYN003 Reynolds Syndrome 36 0.024
726
LRY029 Laryngomalacia 36 0.024
727
P CLR001 Clear Cell Acanthoma 36 0.024
728
MGC004 Megacystis Microcolon Intestinal Hypoperistalsis Syndrome 36 0.024
729
PHL006 Phelan-Mcdermid Syndrome 35 0.024
730
SPR007 Superior Mesenteric Artery Syndrome 35 0.024
731
P EPL025 Epileptic Encephalopathy, Early Infantile, 2 35 0.024
732
SCH024 Schinzel Giedion Syndrome 35 0.024
733
EMN001 Emanuel Syndrome 34 0.024
734
CNG105 Congenital Lobar Emphysema 34 0.024
735
ESP023 Esophageal Disease 34 0.024
736
TST021 Testicular Germ Cell Tumor 34 0.024
737
INT046 Intestinal Tuberculosis 34 0.024
738
HYP264 Hypertonia 34 0.024
739
MTR010 Mature Teratoma 34 0.024
740
P INF131 Infant Acute Respiratory Distress Syndrome 33 0.024
741
DST056 Distal 22q11.2 Microdeletion Syndrome 33 0.024
742
c ATX010 Ataxia Neuropathy Spectrum 33 0.024
743
MTR001 Mature Cataract 32 0.024
744
DYS036 Dysequilibrium Syndrome 32 0.024
745
PHM001 Phimosis 32 0.024
746
c MCL046 Mucolipidosis Iii Alpha/beta 32 0.024
747
WRN004 Wrinkly Skin Syndrome 32 0.024
748
TTH001 Tooth Ankylosis 31 0.024
749
GRD005 Geroderma Osteodysplasticum 31 0.024
750
P GM1003 Gm1 Gangliosidosis Type 3 31 0.024
751
RTR007 Retroperitoneal Leiomyosarcoma 31 0.024
752
VSC026 Vesiculitis 30 0.024
753
CRN188 Craniosynostosis - Hydrocephalus - Chiari I Malformation - Radioulnar Synostosis 30 0.024
754
P SLP004 Salpingo-Oophoritis 30 0.024
755
CHR174 Christianson Syndrome 30 0.024
756
RPS001 Rapsn-Related Congenital Myasthenic Syndrome 30 0.024
757
CNT056 Cantu Syndrome 30 0.024
758
MYH012 Myhre Syndrome 30 0.024
759
GPS001 Gapo Syndrome 30 0.024
760
HYP143 Hypomyelination and Congenital Cataract 29 0.024
761
MSM004 Mesomelia-Synostoses Syndrome 29 0.024
762
c 46X001 46 Xy Gonadal Dysgenesis 29 0.024
763
17Q002 17q23.1q23.2 Microdeletion Syndrome 28 0.024
764
NNT004 Neonatal Respiratory Failure 28 0.024
765
MNT003 Mental Retardation in Cri-Du-Chat Syndrome 27 0.024
766
SKT001 Sakati Syndrome 27 0.024
767
ABL001 Ablepharon Macrostomia Syndrome 27 0.024
768
OCL034 Oculocerebrocutaneous Syndrome 27 0.024
769
CNG122 Congenital Pulmonary Lymphangiectasia 27 0.024
770
P KBK002 Kabuki Syndrome 1 27 0.024
771
URT016 Urethral Diverticulum 27 0.024
772
c OST039 Osteogenesis Imperfecta Type 5 27 0.024
773
17P002 17p13.3 Microduplication Syndrome 26 0.024
774
PRD015 Proud Levine Carpenter Syndrome 26 0.024
775
ART007 Aorta Atresia 26 0.024
776
P PRS068 Persistent Mullerian Duct Syndrome, Type Ii 26 0.024
777
c OPT048 Opitz-Gbbb Syndrome 26 0.024
778
EPD018 Epididymo-Orchitis 26 0.024
779
DBT042 Diabetes, Permanent Neonatal 26 0.024
780
FLC001 Folic Acid Deficiency Anemia 26 0.024
781
c 2P2001 2p21 Microdeletion Syndrome 25 0.024
782
P SCH023 Schindler Disease, Type 1 25 0.024
783
TYL002 Tylosis with Esophageal Cancer 25 0.024
784
c PST061 Posterior Polymorphous Corneal Dystrophy 24 0.024
785
FMR006 Femoral Facial Syndrome 24 0.024
786
c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 24 0.024
787
c JBR016 Joubert Syndrome 10 24 0.024
788
LKM059 Leukemia, Megakaryoblastic, with or Without Down Syndrome, Somatic 24 0.024
789
P DXT002 Dextrocardia with Situs Inversus 24 0.024
790
CYT004 Cytomegalic Inclusion Disease 24 0.024
791
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 24 0.024
792
c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 24 0.024
793
URT011 Urethral Calculus 24 0.024
794
NCL003 Nicolaides Baraitser Syndrome 24 0.024
795
WTS001 Watson Syndrome 23 0.024
796
P CNG151 Congenital Hypothyroidism, Nongoitrous 1 23 0.024
797
OVR059 Ovary Adenocarcinoma 23 0.024
798
APL022 Aplasia Cutis Congenita, Reticulolinear, with Mmicrocephaly, Facial Dysmorphism and Other Congenital Anomalies 23 0.024
799
14Q001 14q12 Microdeletion Syndrome 23 0.024
800
ARG004 Argyria 23 0.024
801
DYS011 Dyskinesia of Esophagus 23 0.024
802
OMD001 Omodysplasia 1 22 0.024
803
P CHR225 Chromosome 1q21.1 Duplication Syndrome 22 0.024
804
PNT005 Pentalogy of Cantrell 22 0.024
805
RNL041 Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 22 0.024
806
P CHR259 Chromosome 6q25 Microdeletion Syndrome 22 0.024
807
TCK002 Tick Paralysis 22 0.024
808
LNG054 Lung Agenesis 22 0.024
809
P TRC035 Tracheal Agenesis 22 0.024
810
PLM049 Plummer Vinson Syndrome 22 0.024
811
P CNG044 Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia 22 0.024
812
HMC020 Homocystinuria, B6-Responsive and Nonresponsive Types 22 0.024
813
ALP058 Alport Syndrome - Intellectual Deficit - Midface Hypoplasia - Elliptocytosis 22 0.024
814
ESN020 Eosinophilic Granulomatosis with Polyangiitis 21 0.024
815
CYS015 Cystadenofibroma 21 0.024
816
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 21 0.024
817
STR029 Sternal Cleft 21 0.024
818
P SPN205 Spinal Muscular Atrophy, X-Linked 2, Infantile 21 0.024
819
RTR009 Retroperitoneal Cancer 21 0.024
820
TRN003 Transverse Colon Cancer 21 0.024
821
P ART087 Arthrogryposis with Oculomotor Limitation and Electroretinal Anomalies 21 0.024
822
PPT002 Peptic Ulcer Perforation 20 0.024
823
OVR047 Ovarian Cystadenocarcinoma 20 0.024
824
URN009 Urinary System Disease 20 0.024
825
SCH055 Schilbach-Rott Syndrome 20 0.024
826
ASC004 Ascending Colon Cancer 20 0.024
827
MSN003 Mesenteric Vascular Occlusion 20 0.024
828
c MNN025 Mannosidosis, Alpha-, Types I and Ii 20 0.024
829
17P001 17p11.2 Microduplication Syndrome 20 0.024
830
c CHR224 Chromosome 1q Duplication 20 0.024
831
GRL002 Gorlin Chaudhry Moss Syndrome 19 0.024
832
ACR029 Acrofacial Dysostosis Catania Type 19 0.024
833
LNZ002 Lenz Majewski Hyperostotic Dwarfism 19 0.024
834
SPL022 Split Hand Urinary Anomalies Spina Bifida 18 0.024
835
OCL033 Oculocerebral Syndrome with Hypopigmentation 18 0.024
836
VTR012 Vater Association with Macrocephaly and Ventriculomegaly 18 0.024
837
DFF002 Diffuse Pulmonary Fibrosis 18 0.024
838
MGD001 Megaduodenum and/or Megacystis 18 0.024
839
GNT020 Giant Congenital Nevus 18 0.024
840
CRB076 Cerebro Facio Thoracic Dysplasia 18 0.024
841
c DST037 Distal Monosomy 9p 18 0.024
842
c SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 17 0.024
843
ESP040 Esophageal Duplication Cyst 17 0.024
844
MCR073 Microgastria Limb Reduction Defect 17 0.024
845
3MC002 3mc Syndrome 1 17 0.024
846
CRN083 Craniofacial Dyssynostosis 17 0.024
847
RCT033 Rectal Duplication 17 0.024
848
PLY031 Polydactyly Myopia Syndrome 16 0.024
849
SHP004 Shprintzen Omphalocele Syndrome 16 0.024
850
PRV001 Parovarian Cyst 16 0.024
851
GNT017 Genito Palato Cardiac Syndrome 16 0.024
852
HYP343 Hypothryoidism, Congenital, Nongoitrous 4 16 0.024
853
BRC019 Brachycephalofrontonasal Dysplasia 16 0.024
854
PRG079 Progeria - Short Stature - Pigmented Nevi 16 0.024
855
2P1002 2p15p16.1 Microdeletion Syndrome 16 0.024
856
CNG092 Congenital Extrahepatic Portosystemic Shunt 15 0.024
857
ART046 Arthrogryposis Multiplex Congenita Neurogenic Type 15 0.024
858
c 7Q1001 7q11.23 Microduplication Syndrome 15 0.024
859
P PRV005 Perivascular Tumor 15 0.024
860
P 49X002 49,xxxxy Syndrome 15 0.024
861
INT090 Intellectual Deficit Buenos-Aires Type 15 0.024
862
EHL008 Ehlers–danlos Syndrome, Vascular Type 15 0.024
863
CRN190 Craniosynostosis - Fibular Aplasia 15 0.024
864
MNV001 Manouvrier Syndrome 15 0.024
865
BRH001 Boerhaave Syndrome 15 0.024
866
16P006 16p11.2p12.2 Microdeletion Syndrome 15 0.024
867
FBL005 Fibular Aplasia 15 0.024
868
RTR005 Retroperitoneal Lymphoma 14 0.024
869
P ISC010 Isochromosome Yp 14 0.024
870
WLS004 Wilson-Turner Syndrome 14 0.024
871
P MNT109 Mental Retardation, X-Linked, Syndromic 15 14 0.024
872
SYR004 Syringobulbia 14 0.024
873
HML015 Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency 14 0.024
874
SCH025 Schisis Association 14 0.024
875
ACR069 Acro-Renal-Mandibular Syndrome 14 0.024
876
c CHR250 Chromosome 4q Duplication 14 0.024
877
BRD023 Bird Headed Dwarfism Montreal Type 14 0.024
878
ANR012 Aniridia Absent Patella 14 0.024
879
SYM004 Say Meyer Syndrome 13 0.024
880
c BNG001 Benign Peritoneal Mesothelioma 13 0.024
881
TBB001 Tibia Absent Polydactyly Arachnoid Cyst 13 0.024
882
MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 13 0.024
883
c ENC032 Encephalopathy Due to Beta-Mercaptolactate-Cysteine Disulfiduria 13 0.024
884
BNG042 Benign Multicystic Peritoneal Mesothelioma 13 0.024
885
3MC001 3mc Syndrome 2 12 0.024
886
ACH018 Achondroplasia and Severe Combined Immunodeficiency 12 0.024
887
BRC027 Brachydactyly Mononen Type 12 0.024
888
FLT008 Flat Face - Microstomia - Ear Anomaly 12 0.024
889
CRB056 Cerebellar Ataxia Ectodermal Dysplasia 12 0.024
890
INT177 Intellectual Deficit, X-Linked - Dysmorphism - Cerebral Atrophy 12 0.024
891
NND005 Non-Distal Trisomy 13q 12 0.024
892
PRG024 Progeroid Syndrome Petty Type 12 0.024
893
THY057 Thyroid Hormonogenesis Defect I 12 0.024
894
PFF004 Pfeiffer Palm Teller Syndrome 12 0.024
895
INT172 Intellectual Deficit, Wolff Type 12 0.024
896
WLM004 Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome 12 0.024
897
THK001 Thakker-Donnai Syndrome 12 0.024
898
c MNS011 Monosomy 9q22.3 12 0.024
899
TLH001 Tel Hashomer Camptodactyly Syndrome 12 0.024
900
STR034 Stratton-Garcia-Young Syndrome 11 0.024
901
BND007 Bone Dysplasia Lethal Holmgren Type 11 0.024
902
HLP015 Holoprosencephaly - Postaxial Polydactyly 11 0.024
903
c SVR048 Severe Canavan Disease 11 0.024
904
CLL022 Collins Pope Syndrome 11 0.024
905
BLP009 Blepharonasofacial Malformation Syndrome 11 0.024
906
c DST038 Distal Monosomy 7q36 11 0.024
907
MRL004 Morillo-Cucci-Passarge Syndrome 11 0.024
908
MLG089 Malignant Hyperthermia Arthrogryposis Torticollis 11 0.024
909
ADN026 Adenocarcinoid Tumor 11 0.024
910
SBR006 Subaortic Stenosis Short Stature Syndrome 11 0.024
911
CND009 Conductive Deafness with Malformed External Ear 10 0.024
912
c 8Q1001 8q12 Microduplication Syndrome 10 0.024
913
CRN193 Corneal Anesthesia - Deafness - Intellectual Deficit 10 0.024
914
HRS009 Hirschsprung Nail Hypoplasia Dysmorphism 10 0.024
915
RDG003 Rudiger Syndrome 10 0.024
916
MYC060 Mycophenolate Mofetil Embryopathy 10 0.024
917
FRS008 Froster-Huch Syndrome 10 0.024
918
INT194 Intellectual Deficit, X-Linked, Armfield Type 10 0.024
919
SPR040 Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas 10 0.024
920
c DST045 Distal Trisomy 6p 10 0.024
921
CNG240 Congenital Unilateral Hypoplasia of Depressor Anguli Oris 10 0.024
922
GND006 Gonadal Dysgenesis Xy Type Associated Anomalies 10 0.024
923
16P003 16p13.11 Microdeletion Syndrome 10 0.024
924
SVR009 Seaver Cassidy Syndrome 10 0.024
925
DSH001 Daish Hardman Lamont Syndrome 10 0.024
926
RNL040 Renal Genital Middle Ear Anomalies 10 0.024
927
RSS007 Resistance to Thyrotropin-Releasing Hormone Syndrome 10 0.024
928
MLL008 Mullerian Agenesis 9 0.024
929
15Q003 15q14 Microdeletion Syndrome 9 0.024
930
GRX001 Grix Blankenship Peterson Syndrome 9 0.024
931
c 6P2001 6p22 Microdeletion Syndrome 9 0.024
932
DST071 Distal Monosomy 19p13.3 9 0.024
933
INT181 Intellectual Deficit - Polydactyly - Uncombable Hair 9 0.024
934
HYP478 Hyposmia - Nasal and Ocular Hypoplasia - Hypogonadotropic Hypogonadism 9 0.024
935
CLF019 Cleft Palate Short Stature Vertebral Anomalies 9 0.024
936
INT158 Intellectual Deficit - Hypoplastic Corpus Callosum - Preauricular Tag 9 0.024
937
INT168 Intellectual Deficit-Unusual Facies, Davis-Lafer Type 9 0.024
938
ARC012 Arachnodactyly - Abnormal Ossification - Intellectual Deficit 9 0.024
939
INT166 Intellectual Deficit - Hypotonia - Skin Hyperpigmentation 8 0.024
940
ECT053 Ectodermal Dysplasia - Intellectual Deficit - Central Nervous System Malformation 8 0.024
941
INT157 Intellectual Deficit, X-Linked - Dandy-Walker Malformation - Basal Ganglia Disease - Seizures 8 0.024
942
NTL002 Natal Teeth, Intestinal Pseudoobstruction and Patent Ductus 8 0.024
943
GST011 Gastric Liposarcoma 8 0.024
944
MSC083 Muscular Pseudohypertrophy - Hypothyroidism 8 0.024
945
MLL014 Mullerian Derivatives - Lymphangiectasia - Polydactyly 8 0.024
946
FTL024 Fetal Minoxidil Syndrome 8 0.024
947
ARR032 Arrhinia - Choanal Atresia - Microphthalmia 8 0.024
948
c CNG339 Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies 7 0.024
949
c CRP022 Carpenter Syndrome 2 7 0.024
950
EXT047 Extralobar Congenital Pulmonary Sequestration 7 0.024
951
PLM045 Palmer Pagon Syndrome 7 0.024
952
ACR070 Acro-Pectoro-Renal Dysplasia 7 0.024
953
c INT097 Intracranial Aneurysms Multiple Congenital Anomaly 7 0.024
954
KRS001 Krauss Herman Holmes Syndrome 7 0.024
955
CTS024 Cutis Laxa-Marfanoid Syndrome 6 0.024
956
INT165 Intellectual Deficit, X-Linked - Short Stature - Obesity 6 0.024
957
INT212 Intellectual Deficit, X-Linked, Pai Type 5 0.024
958
CNG131 Congenital Unilateral Pulmonary Hypoplasia 5 0.024
959
PRC041 Pericardial and Diaphragmatic Defect 4 0.024